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Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations.

Akçimen F, Ross JP, Bourassa CV, Liao C, Rochefort D, Gama MTD, Dicaire MJ, Barsottini OG, Brais B, Pedroso JL, Dion PA, Rouleau GA.

Front Genet. 2019 Nov 22;10:1219. doi: 10.3389/fgene.2019.01219. eCollection 2019.


Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression.

Sarayloo F, Dionne-Laporte A, Catoire H, Rochefort D, Houle G, Ross JP, Akçimen F, Barros Oliveira R, Turecki G, Dion PA, Rouleau GA.

PLoS One. 2019 Nov 14;14(11):e0225186. doi: 10.1371/journal.pone.0225186. eCollection 2019.


Innovation and Its Discontents: Pathways and Barriers in the Diffusion of Assertive Community Treatment.

Rochefort DA.

Milbank Q. 2019 Nov 4. doi: 10.1111/1468-0009.12429. [Epub ahead of print]


Interfacial Forces across Ionic Liquid Solutions: Effects of Ion Concentration and Water Domains †.

Adibnia V, Mirbagheri M, Latreille PL, De Crescenzo G, Rochefort D, Banquy X.

Langmuir. 2019 Dec 3;35(48):15585-15591. doi: 10.1021/acs.langmuir.9b02011. Epub 2019 Aug 2.


Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males.

Ambalavanan A, Chaumette B, Zhou S, Xie P, He Q, Spiegelman D, Dionne-Laporte A, Bourassa CV, Therrien M, Rochefort D, Xiong L, Dion PA, Joober R, Rapoport JL, Girard SL, Rouleau GA.

Am J Med Genet B Neuropsychiatr Genet. 2019 Sep;180(6):335-340. doi: 10.1002/ajmg.b.32683. Epub 2018 Oct 30.


A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1.

Catoire H, Sarayloo F, Mourabit Amari K, Apuzzo S, Grant A, Rochefort D, Xiong L, Montplaisir J, Earley CJ, Turecki G, Dion PA, Rouleau GA.

Sci Rep. 2018 Aug 15;8(1):12173. doi: 10.1038/s41598-018-30665-6.


The Affordable Care Act and the Faltering Revolution in Behavioral Health Care.

Rochefort DA.

Int J Health Serv. 2018 Apr;48(2):223-246. doi: 10.1177/0020731417753674. Epub 2018 Mar 29.


An Artificial Lithium Protective Layer that Enables the Use of Acetonitrile-Based Electrolytes in Lithium Metal Batteries.

Trinh ND, Lepage D, Aymé-Perrot D, Badia A, Dollé M, Rochefort D.

Angew Chem Int Ed Engl. 2018 Apr 23;57(18):5072-5075. doi: 10.1002/anie.201801737. Epub 2018 Mar 23.


Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors.

Cruceanu C, Schmouth JF, Torres-Platas SG, Lopez JP, Ambalavanan A, Darcq E, Gross F, Breton B, Spiegelman D, Rochefort D, Hince P, Petite JM, Gauthier J, Lafrenière RG, Dion PA, Greenwood CM, Kieffer BL, Alda M, Turecki G, Rouleau GA.

Mol Psychiatry. 2018 Oct;23(10):2050-2056. doi: 10.1038/mp.2017.223. Epub 2017 Nov 21.


Reimagining the Cuckoo's Nest.

Rochefort DA.

J Med Humanit. 2018 Mar;39(1):3-14. doi: 10.1007/s10912-017-9481-1.


Enhancing thermoelectrochemical properties by tethering ferrocene to the anion or cation of ionic liquids: altered thermodynamics and solubility.

Aldous L, Black JJ, Elias MC, Gélinas B, Rochefort D.

Phys Chem Chem Phys. 2017 Sep 13;19(35):24255-24263. doi: 10.1039/c7cp04322h.


FOXP1-related intellectual disability syndrome: a recognisable entity.

Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B.

J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22. Erratum in: J Med Genet. 2018 Jan;55(1):72-73. J Med Genet. 2018 Feb 13;:.


Air-Stable, Self-Bleaching Electrochromic Device Based on Viologen- and Ferrocene-Containing Triflimide Redox Ionic Liquids.

Gélinas B, Das D, Rochefort D.

ACS Appl Mater Interfaces. 2017 Aug 30;9(34):28726-28736. doi: 10.1021/acsami.7b04427. Epub 2017 Aug 21.


RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.

Zhou S, Ambalavanan A, Rochefort D, Xie P, Bourassa CV, Hince P, Dionne-Laporte A, Spiegelman D, Gan-Or Z, Mirarchi C, Zaharieva V, Dupré N, Kobayashi H, Hitomi T, Harada K, Koizumi A, Xiong L, Dion PA, Rouleau GA.

Am J Hum Genet. 2016 Nov 3;99(5):1072-1085. doi: 10.1016/j.ajhg.2016.09.001. Epub 2016 Oct 13.


Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuk A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B.

Am J Hum Genet. 2016 Jun 2;98(6):1271. doi: 10.1016/j.ajhg.2016.05.009. Epub 2016 Jun 2. No abstract available.


Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuk A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B.

Am J Hum Genet. 2016 May 5;98(5):1038-1046. doi: 10.1016/j.ajhg.2016.04.002. Erratum in: Am J Hum Genet. 2016 Jun 2;98 (6):1271.


Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition.

Kahle KT, Schmouth JF, Lavastre V, Latremoliere A, Zhang J, Andrews N, Omura T, Laganière J, Rochefort D, Hince P, Castonguay G, Gaudet R, Mapplebeck JC, Sotocinal SG, Duan J, Ward C, Khanna AR, Mogil JS, Dion PA, Woolf CJ, Inquimbert P, Rouleau GA.

Sci Signal. 2016 Mar 29;9(421):ra32. doi: 10.1126/scisignal.aad0163.


Development of prototypes of bioactive packaging materials based on immobilized bacteriophages for control of growth of bacterial pathogens in foods.

Lone A, Anany H, Hakeem M, Aguis L, Avdjian AC, Bouget M, Atashi A, Brovko L, Rochefort D, Griffiths MW.

Int J Food Microbiol. 2016 Jan 18;217:49-58. doi: 10.1016/j.ijfoodmicro.2015.10.011. Epub 2015 Oct 22.


Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.

Jouan L, Ouled Amar Bencheikh B, Daoud H, Dionne-Laporte A, Dobrzeniecka S, Spiegelman D, Rochefort D, Hince P, Szuto A, Lassonde M, Barbelanne M, Tsang WY, Dion PA, Théoret H, Rouleau GA.

Eur J Hum Genet. 2016 Apr;24(4):607-10. doi: 10.1038/ejhg.2015.156. Epub 2015 Jul 22.


C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder.

Daoud H, Postuma RB, Bourassa CV, Rochefort D, Gauthier MT, Montplaisir J, Gagnon JF, Arnulf I, Dauvilliers Y, Charley CM, Inoue Y, Sasai T, Högl B, Desautels A, Frauscher B, Cochen De Cock V, Rouleau GA, Dion PA.

Can J Neurol Sci. 2014 Nov;41(6):759-62. doi: 10.1017/cjn.2014.39. Epub 2014 Nov 4.


Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

Kaneb HM, Folkmann AW, Belzil VV, Jao LE, Leblond CS, Girard SL, Daoud H, Noreau A, Rochefort D, Hince P, Szuto A, Levert A, Vidal S, André-Guimont C, Camu W, Bouchard JP, Dupré N, Rouleau GA, Wente SR, Dion PA.

Hum Mol Genet. 2015 Mar 1;24(5):1363-73. doi: 10.1093/hmg/ddu545. Epub 2014 Oct 24.


Fast and effective paper based sensor for self-diagnosis of bacterial vaginosis.

Zhang Y, Rochefort D.

Anal Chim Acta. 2013 Oct 24;800:87-94. doi: 10.1016/j.aca.2013.09.032. Epub 2013 Sep 25.


Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/β-catenin pathway.

Abu-Baker A, Laganiere J, Gaudet R, Rochefort D, Brais B, Neri C, Dion PA, Rouleau GA.

Cell Death Dis. 2013 Oct 3;4:e821. doi: 10.1038/cddis.2013.342.


Electrochemical characterisation of a lithium-ion battery electrolyte based on mixtures of carbonates with a ferrocene-functionalised imidazolium electroactive ionic liquid.

Forgie JC, El Khakani S, MacNeil DD, Rochefort D.

Phys Chem Chem Phys. 2013 May 28;15(20):7713-21. doi: 10.1039/c3cp50560j. Epub 2013 Apr 17.


C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

Lesage S, Le Ber I, Condroyer C, Broussolle E, Gabelle A, Thobois S, Pasquier F, Mondon K, Dion PA, Rochefort D, Rouleau GA, Dürr A, Brice A; French Parkinson’s Disease Genetics Study Group.

Brain. 2013 Feb;136(Pt 2):385-91. doi: 10.1093/brain/aws357.


Investigation of C9orf72 repeat expansions in Parkinson's disease.

Daoud H, Noreau A, Rochefort D, Paquin-Lanthier G, Gauthier MT, Provencher P, Pourcher E, Dupré N, Chouinard S, Jodoin N, Soland V, Fon EA, Dion PA, Rouleau GA.

Neurobiol Aging. 2013 Jun;34(6):1710.e7-9. doi: 10.1016/j.neurobiolaging.2012.11.025. Epub 2012 Dec 27.


Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.

Piton A, Jouan L, Rochefort D, Dobrzeniecka S, Lachapelle K, Dion PA, Gauthier J, Rouleau GA.

Eur J Hum Genet. 2013 Jul;21(7):749-56. doi: 10.1038/ejhg.2012.243. Epub 2012 Nov 21.


Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G.

Hum Mutat. 2013 Feb;34(2):385-94. doi: 10.1002/humu.22248. Epub 2012 Dec 12.


Characterisation and applications of microcapsules obtained by interfacial polycondensation.

Zhang Y, Rochefort D.

J Microencapsul. 2012;29(7):636-49. doi: 10.3109/02652048.2012.676092. Epub 2012 Apr 11. Review.


Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.

Shekarabi M, Moldrich RX, Rasheed S, Salin-Cantegrel A, Laganière J, Rochefort D, Hince P, Huot K, Gaudet R, Kurniawan N, Sotocinal SG, Ritchie J, Dion PA, Mogil JS, Richards LJ, Rouleau GA.

J Neurosci. 2012 Mar 14;32(11):3865-76. doi: 10.1523/JNEUROSCI.3679-11.2012.


Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.

Stochmanski SJ, Therrien M, Laganière J, Rochefort D, Laurent S, Karemera L, Gaudet R, Vyboh K, Van Meyel DJ, Di Cristo G, Dion PA, Gaspar C, Rouleau GA.

Hum Mol Genet. 2012 May 15;21(10):2211-8. doi: 10.1093/hmg/dds036. Epub 2012 Feb 14.


KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA.

Am J Hum Genet. 2011 Aug 12;89(2):219-30. doi: 10.1016/j.ajhg.2011.06.013. Epub 2011 Aug 4.


Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

Salin-Cantegrel A, Rivière JB, Shekarabi M, Rasheed S, Dacal S, Laganière J, Gaudet R, Rochefort D, Lesca G, Gaspar C, Dion PA, Lapointe JY, Rouleau GA.

J Biol Chem. 2011 Aug 12;286(32):28456-65. doi: 10.1074/jbc.M111.226894. Epub 2011 May 31.


Printing of polymer microcapsules for enzyme immobilization on paper substrate.

Savolainen A, Zhang Y, Rochefort D, Holopainen U, Erho T, Virtanen J, Smolander M.

Biomacromolecules. 2011 Jun 13;12(6):2008-15. doi: 10.1021/bm2003434. Epub 2011 May 13.


De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.

Hamdan FF, Daoud H, Rochefort D, Piton A, Gauthier J, Langlois M, Foomani G, Dobrzeniecka S, Krebs MO, Joober R, Lafrenière RG, Lacaille JC, Mottron L, Drapeau P, Beauchamp MH, Phillips MS, Fombonne E, Rouleau GA, Michaud JL.

Am J Hum Genet. 2010 Nov 12;87(5):671-8. doi: 10.1016/j.ajhg.2010.09.017. Epub 2010 Oct 14.


Comparison of emulsion and vibration nozzle methods for microencapsulation of laccase and glucose oxidase by interfacial reticulation of poly(ethyleneimine).

Zhang Y, Rochefort D.

J Microencapsul. 2010;27(8):703-13. doi: 10.3109/02652048.2010.509518. Epub 2010 Aug 17.


Mutations in DCC cause congenital mirror movements.

Srour M, Rivière JB, Pham JM, Dubé MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Théoret H, Charron F, Rouleau GA.

Science. 2010 Apr 30;328(5978):592. doi: 10.1126/science.1186463.


Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.

Kabashi E, Lin L, Tradewell ML, Dion PA, Bercier V, Bourgouin P, Rochefort D, Bel Hadj S, Durham HD, Vande Velde C, Rouleau GA, Drapeau P.

Hum Mol Genet. 2010 Feb 15;19(4):671-83. doi: 10.1093/hmg/ddp534. Epub 2009 Dec 3. Erratum in: Hum Mol Genet. 2010 Aug 1;19(15):3102.


Development of an enzymatic microreactor based on microencapsulated laccase with off-line capillary electrophoresis for measurement of oxidation reactions.

Roman-Gusetu G, Waldron KC, Rochefort D.

J Chromatogr A. 2009 Nov 20;1216(47):8270-6. doi: 10.1016/j.chroma.2009.08.069. Epub 2009 Aug 31.


Covered but still at risk: how can policymakers address increased cost sharing in private health insurance?

Rochefort DA, Ganim M, Donnelly KP.

Med Health R I. 2008 Apr;91(4):109-10, 112. No abstract available.


HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.

Salin-Cantegrel A, Shekarabi M, Holbert S, Dion P, Rochefort D, Laganière J, Dacal S, Hince P, Karemera L, Gaspar C, Lapointe JY, Rouleau GA.

Hum Mol Genet. 2008 Sep 1;17(17):2703-11. doi: 10.1093/hmg/ddn172. Epub 2008 Jun 19.


Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.

Shekarabi M, Girard N, Rivière JB, Dion P, Houle M, Toulouse A, Lafrenière RG, Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M, Rouleau GA.

J Clin Invest. 2008 Jul;118(7):2496-505. doi: 10.1172/JCI34088.


Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy.

Messaed C, Dion PA, Abu-Baker A, Rochefort D, Laganiere J, Brais B, Rouleau GA.

Neurobiol Dis. 2007 Jun;26(3):546-57. Epub 2007 Feb 15.


Is health reform in Massachusetts a model for Rhode Island?

Rochefort DA.

Med Health R I. 2006 Dec;89(12):407-10. No abstract available.


A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors.

Duan QL, Nikpoor B, Dube MP, Molinaro G, Meijer IA, Dion P, Rochefort D, Saint-Onge J, Flury L, Brown NJ, Gainer JV, Rouleau JL, Agostoni A, Cugno M, Simon P, Clavel P, Potier J, Wehbe B, Benarbia S, Marc-Aurele J, Chanard J, Foroud T, Adam A, Rouleau GA.

Am J Hum Genet. 2005 Oct;77(4):617-26. Epub 2005 Sep 1.


Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice.

Dion P, Shanmugam V, Gaspar C, Messaed C, Meijer I, Toulouse A, Laganiere J, Roussel J, Rochefort D, Laganiere S, Allen C, Karpati G, Bouchard JP, Brais B, Rouleau GA.

Neurobiol Dis. 2005 Apr;18(3):528-36.


CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations.

Verlaan DJ, Laurent SB, Rochefort DL, Liquori CL, Marchuk DA, Siegel AM, Rouleau GA.

Ann Neurol. 2004 May;55(5):757-8. No abstract available.


Mutational analysis of neurotensin in familial restless legs syndrome.

Desautels A, Turecki G, Xiong L, Rochefort D, Montplaisir J, Rouleau GA.

Mov Disord. 2004 Jan;19(1):90-4.


Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.

Hand CK, Devon RS, Gros-Louis F, Rochefort D, Khoris J, Meininger V, Bouchard JP, Camu W, Hayden MR, Rouleau GA.

Arch Neurol. 2003 Dec;60(12):1768-71.


Left behind by reform: the case for improving primary care and mental health system services for people with moderate mental illness.

Dewa CS, Rochefort DA, Rogers J, Goering P.

Appl Health Econ Health Policy. 2003;2(1):43-54.


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